Canonical Allele Identifier: CA744795651

Gene: KCNS1

Linked Data

• dbSNP Id: rs1175641085
• gnomAD v3: 20-45092757-T-C
• gnomAD v4: 20-45092757-T-C
• MyVariant Identifiers: chr20:g.43721398T>C (hg19) ; chr20:g.45092757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45092757T>C , CM000682.2:g.45092757T>C	GRCh38
NC_000020.10:g.43721398T>C , CM000682.1:g.43721398T>C	GRCh37
NC_000020.9:g.43154812T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537075.3:c.*2113A>G MANE Select	ENSP00000445595.1:n.*2113A>G
ENST00000306117.5:c.*2113A>G	ENSP00000307694.1:n.*2113A>G
NM_002251.3:c.*2113A>G	NP_002242.2:n.*2113A>G
XM_005260409.3:c.*2113A>G	XP_005260466.1:n.*2113A>G
NM_001322799.1:c.*2113A>G	NP_001309728.1:n.*2113A>G
NM_002251.4:c.*2113A>G	NP_002242.2:n.*2113A>G
XM_017027846.1:c.*2113A>G	XP_016883335.1:n.*2113A>G
NM_001322799.2:c.*2113A>G MANE Select	NP_001309728.1:n.*2113A>G
NM_002251.5:c.*2113A>G	NP_002242.2:n.*2113A>G